Salen G, Horak I, Rothkopf M, Cohen J L, Speck J, Tint G S, Shore V, Dayal B, Chen T, Shefer S
J Lipid Res. 1985 Sep;26(9):1126-33.
Tissue sterol composition was determined in an 18-year-old male with sitosterolemia with xanthomatosis who died suddenly and whose coronary and aortic vessels showed extensive atherosclerosis and, for comparison, in an 18-year-old male with minimal atherosclerosis who died accidently. Sterols in the control tissues (plasma, erythrocytes, cardiac muscle, lung, liver, aorta, and brain) contained cholesterol with only trace amounts of cholestanol. In contrast, sterols in corresponding tissues of the sitosterolemic subject (except brain) were composed of cholesterol, increased amounts of plant sterols, campesterol and sitosterol, and 5 alpha-saturated stanols, cholestanol, 5 alpha-campestanol, and 5 alpha-sitostanol, that were deposited in approximately the same ratio as present in plasma. However, sitosterolemic brain sterol composition resembled that of the control brain with cholesterol and only trace amounts (less than 1%) of cholestanol and phytosterols. The sitosterolemic aorta was extensively atherosclerotic and contained more than twice the quantity of sterols as the control aorta (5.6 mg/g versus 2.6 mg/g) with increased amounts of cholesterol, plant sterols, and 5 alpha-saturated stanols. These results indicate that cholesterol, plant sterols, and 5 alpha-stanols are deposited prematurely and are associated with accelerated atherosclerosis in subjects with sitosterolemia with xanthomatosis.
对一名患有黄瘤病的谷甾醇血症18岁男性进行了组织甾醇成分测定，该男性突然死亡，其冠状动脉和主动脉血管显示出广泛的动脉粥样硬化；作为对照，还对一名意外死亡、动脉粥样硬化程度较轻的18岁男性进行了测定。对照组织（血浆、红细胞、心肌、肺、肝脏、主动脉和脑）中的甾醇含有胆固醇，仅含微量胆甾烷醇。相比之下，谷甾醇血症患者相应组织（脑除外）中的甾醇由胆固醇、植物甾醇、菜油甾醇和谷甾醇含量增加，以及5α-饱和甾烷醇、胆甾烷醇、5α-菜油甾烷醇和5α-谷甾烷醇组成，它们的沉积比例与血浆中大致相同。然而，谷甾醇血症患者脑甾醇成分与对照脑相似，含有胆固醇，仅含微量（小于1%）胆甾烷醇和植物甾醇。谷甾醇血症患者的主动脉广泛动脉粥样硬化，其甾醇含量是对照主动脉的两倍多（5.6毫克/克对2.6毫克/克），胆固醇、植物甾醇和5α-饱和甾烷醇含量增加。这些结果表明，胆固醇、植物甾醇和5α-甾烷醇在患有黄瘤病的谷甾醇血症患者中过早沉积，并与加速的动脉粥样硬化有关。
